| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genetic Epilepsy v0.2214 | SNAP29 | Elena Savva Marked gene: SNAP29 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2214 | SNAP29 | Elena Savva Gene: snap29 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2214 | SNAP29 | Elena Savva Classified gene: SNAP29 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2214 | SNAP29 | Elena Savva Gene: snap29 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2213 | SNAP29 |
Elena Savva gene: SNAP29 was added gene: SNAP29 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAP29 were set to PMID: 33977139 Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome MIM#609528 Review for gene: SNAP29 was set to GREEN Added comment: Seizures (in some patients) noted in OMIM PMID: 33977139 - cohort of 6 probands, seizures detected in 3/6. Paper reviews previous reports, notes seizures in another cohort of 7/19 Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.619 | TUBA8 | Zornitza Stark edited their review of gene: TUBA8: Added comment: However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).; Changed rating: RED; Changed publications: 31481326, 19896110, 28388629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||